Camptosynpolydactyly, complex

Preferred Label : Camptosynpolydactyly, complex;

Symbol : CCSPD;

CISMeF acronym : CCSPD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Camptopolydactyly, disorganization type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the basic helix-loop-helix family, member-A9 gene (BHLHA9, 615416.0004);

Prefixed ID : #607539;

Details

Origin ID

607539;

UMLS CUI

C1843758;

Currated CISMeF NLP mapping
- camptosynpolydactyly, complex [MeSH concept]
- camptosynpolydactyly, complex [MeSH Supplementary Concept]
Genes related to phenotype
- Basic helix-loop-helix family, member a9 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Camptodactyly [HPO term]
- Cutaneous syndactyly [HPO term]
- Nail dysplasia [HPO term]
- Polydactyly [HPO term]
- Small nail [HPO term]
- Syndactyly [HPO term]
- Toenail dysplasia [HPO term]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- camptosynpolydactyly, complex [MeSH Supplementary Concept]
- camptosynpolydactyly, complex [MeSH concept]

Keyword's position in hierarchy(ies) :

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